MECP2

MECP2
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	1QK9, 3C2I
Identifiers
Aliases	MECP2, AUTSX3, MRX16, MRX79, MRXS13, MRXSL, PPMX, RS, RTS, RTT, methyl-CpG binding protein 2
External IDs	OMIM: 300005 MGI: 99918 HomoloGene: 3657 GeneCards: MECP2
Gene location (Human)
Chr.	X chromosome (human)
End	154,137,103 bp
Gene location (Mouse)
Chr.	X chromosome (mouse)
End	73,178,969 bp
RNA expression pattern
	Top expressed in
	Brodmann area 10; ; sural nerve; ; frontal pole; ; middle frontal gyrus; ; cerebellar vermis; ; Achilles tendon; ; postcentral gyrus; ; blood; ; corpus callosum; ; gastric mucosa;
	Top expressed in
	substantia nigra; ; pineal gland; ; habenula; ; Region I of hippocampus proper; ; superior colliculus; ; ciliary body; ; dorsomedial hypothalamic nucleus; ; cerebellar vermis; ; ventromedial nucleus; ; mammillary body;
	More reference expression data
	; ; ; ;
	More reference expression data
Gene ontology
Molecular function	double-stranded methylated DNA binding; transcription corepressor activity; protein domain specific binding; protein N-terminus binding; DNA-binding transcription factor activity; transcription factor binding; siRNA binding; mRNA binding; chromatin binding; protein binding; DNA binding; DNA-binding transcription repressor activity, RNA polymerase II-specific; RNA binding; methyl-CpG binding;
Cellular component	postsynapse; cytoplasm; mitochondrion; nucleus; heterochromatin; extracellular space; gamma-tubulin complex; centrosome; cytosol; chromatin; nucleoplasm;
Biological process	negative regulation of neuron apoptotic process; multicellular organismal response to stress; inositol metabolic process; mitochondrial electron transport, ubiquinol to cytochrome c; post-embryonic development; learning; proprioception; neuron projection development; regulation of gene expression by genetic imprinting; regulation of transcription, DNA-templated; pathogenesis; neuromuscular process controlling posture; adult locomotory behavior; memory; transcription, DNA-templated; ventricular system development; neuron maturation; positive regulation of transcription, DNA-templated; glutamine metabolic process; neuromuscular process; histone acetylation; excitatory postsynaptic potential; nervous system process involved in regulation of systemic arterial blood pressure; social behavior; synapse assembly; chemical synaptic transmission; negative regulation of histone methylation; startle response; glucocorticoid metabolic process; dendrite development; negative regulation of transcription by RNA polymerase II; behavioral fear response; respiratory gaseous exchange by respiratory system; cerebellum development; regulation of synaptic plasticity; cardiolipin metabolic process; neuron differentiation; regulation of gene expression; sensory perception of pain; negative regulation of transcription, DNA-templated; phosphatidylcholine metabolic process; visual learning; protein localization; response to hypoxia; regulation of gene expression, epigenetic; cellular biogenic amine metabolic process; regulation of respiratory gaseous exchange by nervous system process; brain development; long-term memory; histone methylation; negative regulation of histone acetylation; catecholamine secretion; long-term potentiation; positive regulation of synapse assembly; negative regulation of smooth muscle cell differentiation; positive regulation of histone H3-K9 trimethylation; negative regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation; mitotic spindle organization; locomotory behavior; positive regulation of cell population proliferation; response to radiation; positive regulation of G2/M transition of mitotic cell cycle; positive regulation of microtubule nucleation; transcription initiation from RNA polymerase II promoter; negative regulation of gene expression; negative regulation of angiogenesis; negative regulation of blood vessel endothelial cell migration; positive regulation of DNA methylation;
	Sources:Amigo / QuickGO
Orthologs
	4204
	17257
	ENSG00000169057
	ENSMUSG00000031393
	P51608
	Q9Z2D6
NM_001110792; NM_004992; NM_001316337; NM_001369391; NM_001369392;
	NM_001369393; NM_001369394; NM_001386137; NM_001386138; NM_001386139
	NM_001081979; NM_010788
NP_001104262; NP_001303266; NP_004983; NP_001356320; NP_001356321;
	NP_001356322; NP_001356323
	NP_001075448; NP_034918
	Wikidata
View/Edit Human	View/Edit Mouse

MECP2 (methyl CpG binding protein 2) is a gene that encodes the protein MECP2. MECP2 appears to be essential for the normal function of nerve cells. The protein seems to be particularly important for mature nerve cells, where it is present in high levels. The MECP2 protein is likely to be involved in turning off ("repressing" or "silencing") several other genes. This prevents the genes from making proteins when they are not needed. Recent work has shown that MECP2 can also activate other genes. The MECP2 gene is located on the long (q) arm of the X chromosome in band 28 ("Xq28"), from base pair 152,808,110 to base pair 152,878,611.

MECP2 is an important reader of DNA methylation. Its methyl-CpG-binding (MBD) domain recognizes and binds 5-mC regions. MECP2 is X-linked and subject to X inactivation. MECP2 gene mutations are the cause of most cases of Rett syndrome, a progressive neurologic developmental disorder and one of the most common causes of cognitive disability in females. At least 53 disease-causing mutations in this gene have been discovered.

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